9th - 11th November, 2023
4th International Middle East Genetics and Metabolic Academy (MEGMA) Symposium,
Sheraton Riyadh Hotel & Towers, KSA
President of the Symposium message
Prof. Majid Alfadhel
It is my great pleasure to welcome you to the 4th International Medical Genetics and Metabolic Academy (MEGMA) Symposium. Our annual symposium (known as MEGMA) is a premier international symposium in Medical Genetics field including Clinical, Biochemical and Laboratory Genetics.
This year's meeting is being held in the beautiful Riyadh city, Saudi Arabia.
The scientific and organizing committee has developed an exciting inter-disciplinary program. This Program includes lectures offering continuing medical education credits to clinicians; panel sessions discussing important medical genetics issues and case presentations discussing several interested genetic cases faced in the clinic. Additonally, it accepted more than 30 abstracts as poster presentations.
The organizers have also successfully recruited an all-star roster of keynote speakers, including Prof. Paul Gissen, Prof. Fatma Al Jasmi, Prof. Tawfeg Ben-Omran , Prof. Moeenaldeen AlSayed, Prof. Mohamed A. Al-Owain, Prof. Hamad Alzaidan, Dr. Hazem Najjr,Dr. Fuad Almutairi, Dr. Steve Rees, , Dr. Malak Alghamdi, Dr. Nahla Alshaikh, Dr. Hind Alsharhan, Dr. Khalid Al-Thihli, , Dr. Ashjan Al-Heggi, Dr Mohammad Bohlooly, Dr. Christina Lampe, Dr. Talal Alanzi, , Dr. Mohammed Umair, Dr. Mohammed Almannai, Dr. Amal Al Teneijy, Dr. Eissa Faqeih, Dr. Mohammed Almuqbil, Dr. Marcello Maresca, Dr. Boutros Maroun, Dr. Ahmed Alfares, Prof. Mohammed AlBalwi, Dr. Şenay Kafkas, Dr. Robert Hoehndorf, Dr. Fahad Al Hakami, Dr. Naif Almuntashri, and Ms. Reta El Ojeil.
The continued growth of our meeting is an indication of its high quality and impact. This year, we will live three days full of scientific knowledge, sessions, and panel discussion in a friendly and family atmosphere. Special thanks go to, sponsoring companies and organizing company Leqaa for their outstanding service and contributions toward making this meeting possible.
MEGMA continues to strive to provide a unique, effective platform for medical geneticists to publish, to present, to network, and to advance their careers. If you are not an MEGMA member yet, please consider joining this dynamic academy, and join us for future MEGMA Conferences.
Again, welcome to 4th MEGMA. I appreciate your participation and hope you will find this meeting stimulating and rewarding.
>Meet the speakers
Conference Agenda
Clinical, Biochemical and Laboratory Genetics
Registration
07:30 am — 08:30 am (KSA Standard Time)
Welcome Speech and Opening Ceremony
08:30 am — 09:00 am (KSA Standard Time)Moderators:
Prof. Majid Alfadhel Dr. Fuad Almutairi
Translation of Genomic Medicine Into Clinical Practice
09:00 am — 09:30 am (KSA Standard Time)
Disease Burden and Unmet Medical Need in ASMD
09:30 am — 10:00 am (KSA Standard Time)
Gene Therapy Medicines for The Treatment of Rare Diseases
10:00 am — 10:30 am (KSA Standard Time)
Discussion
10:30 am — 10:40 am (KSA Standard Time)
Coffee Break
10:40 am — 11:00 am (KSA Standard Time)Moderators:
Dr. Malak Alghamdi Dr. Aziza Mushiba
Update and Overview on Hypophasphatasia
11:00 am — 11:30 am (KSA Standard Time)
Understanding Hereditary Orotic Aciduria from Genetics to Therapy
11:30 am — 11:50 am (KSA Standard Time)
Update on The Homocystinuria Diagnosis and Management
11:50 am — 12:10 pm (KSA Standard Time)
Discussion
12:10 pm — 12:20 pm (KSA Standard Time)
Lunch Break
12:20 pm — 01:30 pm (KSA Standard Time)Moderators:
Prof. Fahad Bashiri Prof. Ahmed Al Rumayyan
SMA: Diagnostic Challenges and Emerging Phenotype
01:30 pm — 02:00 pm (KSA Standard Time)
Neurometabolic Cases
02:00 pm — 02:30 pm (KSA Standard Time)
The Outcome of Domino Liver Transplant: A Focus on Domino Recipients
02:30 pm — 03:00 pm (KSA Standard Time)
Coffee Break
03:00 pm — 03:30 pm (KSA Standard Time)Moderator:
Prof. Zuhair Al-Hassnan
Premarital Genetic Screening: Current Status, Challenges and Future
03:30 pm — 05:00 pm (KSA Standard Time)
Closure of The First Day
08:00 pm — 08:05 pm (KSA Standard Time)Clinical, Biochemical and Laboratory Genetics
Transitioning the CLN2 Enzyme Replacement Therapy From A Clinical Trial To The National Health Service in The UK
09:00 am — 09:30 am (KSA Standard Time)
Epidermolysis Bullosa: Unfolding the future and changes in practice
09:30 am — 10:00 am (KSA Standard Time)
A Gene Therapy Medicine for The Treatment of Homozygous Familial Hypercholesterolaemia
10:00 am — 10:30 am (KSA Standard Time)
Discussion
10:30 am — 10:40 am (KSA Standard Time)
Coffee Break
10:40 am — 11:00 am (KSA Standard Time)
Optimal Management of MPS Patients (MPS IVa -VI)
11:00 am — 11:30 am (KSA Standard Time)
Discussion
11:30 am — 11:40 am (KSA Standard Time)
Lunch Break
11:40 am — 01:00 pm (KSA Standard Time)
Development of A Personalised RNA Based Therapy for A Patient With Deep Intronic Mutation in NPC1”
01:00 pm — 01:30 pm (KSA Standard Time)
Changing The Horizon for Mucopolysaccharidosis Type II Patients
01:30 pm — 02:00 pm (KSA Standard Time)
Rare Diseases and Precision Medicine: The Successive Paradigm
02:00 pm — 02:30 pm (KSA Standard Time)
Limitation of Gene Therapy
02:30 pm — 02:50 pm (KSA Standard Time)
Discussion
02:50 pm — 03:00 pm (KSA Standard Time)
Coffee Break
03:00 pm — 03:20 pm (KSA Standard Time)
Role and Value of Health Economics in The Evaluation of Gene Therapy
03:20 pm — 03:40 pm (KSA Standard Time)
Management of VLCAD Deficiency –Local Experience
03:40 pm — 04:00 pm (KSA Standard Time)
Discussion
04:00 pm — 04:10 pm (KSA Standard Time)
Case Presentations
04:10 pm — 05:00 pm (KSA Standard Time)
Closure of The Second Day
05:00 pm — 05:05 pm (KSA Standard Time)Clinical, Biochemical and Laboratory Genetics
Unraveling The Mysteries: A Deep Dive Into Mitochondrial Disorders
08:30 am — 09:00 am (KSA Standard Time)
Update on The Metachromatic Leukodystrophy
09:00 am — 09:30 am (KSA Standard Time)
Cerebrotendinous Xanthomatosis (CTX): The Real World Experience
09:30 am — 10:00 am (KSA Standard Time)
eSPOT-On: The Discovery of A Novel Nuclease for Human Genome Editing
10:00 am — 10:30 am (KSA Standard Time)
Discussion
10:30 am — 10:40 am (KSA Standard Time)
Coffee break
10:40 am — 11:00 am (KSA Standard Time)
Whole Genome Sequencing ( WGS ) to Diagnose Rare & Metabolic Genetic Diseases
11:00 am — 11:30 am (KSA Standard Time)
Advances in Genetics and Genomics in Saudi Arabia
11:30 am — 11:55 am (KSA Standard Time)
CGH Microarray: Challenging Case Scenarios
11:55 am — 12:20 pm (KSA Standard Time)
Discussion
12:20 pm — 12:30 pm (KSA Standard Time)
Lunch Break
12:30 pm — 01:30 pm (KSA Standard Time)
Best Case Abstract Presentation and Award
01:30 pm — 01:50 pm (KSA Standard Time)
STARVar: Symptom-Based Tool for Automatic Ranking of Variants Using Evidence from Literature and Genomes
01:50 pm — 02:10 pm (KSA Standard Time)
The Need for Structured Background Knowledge in AI-Based Interpretation of Genomic Variants
02:10 pm — 02:30 pm (KSA Standard Time)
Where to Go? WES vs WGS vs Gene Panels
02:30 pm — 03:30 pm (KSA Standard Time)
Closure of The Symposium
03:30 pm — 04:00 pm (KSA Standard Time)Conference Agenda
Clinical, Biochemical and Laboratory Genetics
Registration
07:30 am — 08:30 am (KSA Standard Time)
Welcome Speech and Opening Ceremony
08:30 am — 09:00 am (KSA Standard Time)
Translation of Genomic Medicine Into Clinical Practice
09:00 am — 09:30 am (KSA Standard Time)
Disease Burden and Unmet Medical Need in ASMD
09:30 am — 10:00 am (KSA Standard Time)
Gene Therapy Medicines for The Treatment of Rare Diseases
10:00 am — 10:30 am (KSA Standard Time)
Discussion
10:30 am — 10:40 am (KSA Standard Time)
Coffee Break
10:40 am — 11:00 am (KSA Standard Time)
Update and Overview on Hypophasphatasia
11:00 am — 11:30 am (KSA Standard Time)
Unraveling The Mysteries: A Deep Dive Into Mitochondrial Disorders
11:30 am — 11:50 am (KSA Standard Time)
Update on The Homocystinuria Diagnosis and Management
11:50 am — 12:10 pm (KSA Standard Time)
Discussion
12:10 pm — 12:20 pm (KSA Standard Time)
Lunch Break
12:20 pm — 01:30 pm (KSA Standard Time)
SMA Burden, in KSA (Updates on Current Management and Care)
01:30 pm — 02:00 pm (KSA Standard Time)
Neurometabolic Cases
02:00 pm — 02:30 pm (KSA Standard Time)
The Outcome of Domino Liver Transplant: A Focus on Domino Recipients
02:30 pm — 03:00 pm (KSA Standard Time)
Coffee Break
03:00 pm — 03:30 pm (KSA Standard Time)
Premarital Genetic Screening: Current Status, Challenges and Future
03:30 pm — 05:00 pm (KSA Standard Time)
Gala Dinner
06:00 pm — 08:00 pm (KSA Standard Time)
Closure of The First Day
08:00 pm — 08:05 pm (KSA Standard Time)Clinical, Biochemical and Laboratory Genetics
Moderators:
Prof. Brahim Tabarki Prof. Sarar Mohamed
Transitioning the CLN2 Enzyme Replacement Therapy From A Clinical Trial To The National Health Service in The UK
09:00 am — 09:30 am (KSA Standard Time)
Epidermolysis Bullosa: Unfolding the future and changes in practice
09:30 am — 10:00 am (KSA Standard Time)
A Gene Therapy Medicine for The Treatment of Homozygous Familial Hypercholesterolaemia
10:00 am — 10:30 am (KSA Standard Time)
Optimal Management of MPS Patients (MPS IVa -VI)
10:30 am — 11:00 am (KSA Standard Time)
Discussion
11:00 am — 11:10 am (KSA Standard Time)
Friday Prayer and Lunch Break
11:10 am — 01:00 pm (KSA Standard Time)Moderators:
Dr. Mahmoud Almutadares Dr. Zainab Al Masseri
Development of A Personalised RNA Based Therapy for A Patient With Deep Intronic Mutation in NPC1”
01:00 pm — 01:30 pm (KSA Standard Time)
Changing The Horizon for Mucopolysaccharidosis Type II Patients
01:30 pm — 02:00 pm (KSA Standard Time)
Rare Diseases and Precision Medicine: The Successive Paradigm
02:00 pm — 02:30 pm (KSA Standard Time)
Limitation of Gene Therapy
02:30 pm — 02:50 pm (KSA Standard Time)
Discussion
02:50 pm — 03:00 pm (KSA Standard Time)
Coffee Break
03:00 pm — 03:20 pm (KSA Standard Time)
Role and Value of Health Economics in The Evaluation of Gene Therapy
03:20 pm — 03:40 pm (KSA Standard Time)
Management of VLCAD Deficiency –Local Experience
03:40 pm — 04:00 pm (KSA Standard Time)
Discussion
04:00 pm — 04:10 pm (KSA Standard Time)Moderators:
Dr. Seham Alameer
Case Presentations
04:10 pm — 05:00 pm (KSA Standard Time)
Closure of The Second Day
05:00 pm — 05:05 pm (KSA Standard Time)
Gala Dinner
06:00 pm — 08:00 pm (KSA Standard Time)Clinical, Biochemical and Laboratory Genetics
Gala Dinner
06:00 pm — 08:00 pm (KSA Standard Time)
Understanding Hereditary Orotic Aciduria from Genetics to Therapy
08:30 am — 09:00 am (KSA Standard Time)
Update on The Metachromatic Leukodystrophy
09:00 am — 09:30 am (KSA Standard Time)
Cerebrotendinous Xanthomatosis (CTX): The Real World Experience
09:30 am — 10:00 am (KSA Standard Time)
eSPOT-On: The Discovery of A Novel Nuclease for Human Genome Editing
10:00 am — 10:30 am (KSA Standard Time)
Discussion
10:30 am — 10:40 am (KSA Standard Time)
Coffee break
10:40 am — 11:00 am (KSA Standard Time)
Whole Genome Sequencing ( WGS ) to Diagnose Rare & Metabolic Genetic Diseases
11:00 am — 11:30 am (KSA Standard Time)
Advances in Genetics and Genomics in Saudi Arabia
11:30 am — 11:55 am (KSA Standard Time)
CGH Microarray: Challenging Case Scenarios
11:55 am — 12:20 pm (KSA Standard Time)
Discussion
12:20 pm — 12:30 pm (KSA Standard Time)
Lunch Break
12:30 pm — 01:30 pm (KSA Standard Time)
Best Case Abstract Presentation and Award
01:30 pm — 01:50 pm (KSA Standard Time)
STARVar: Symptom-Based Tool for Automatic Ranking of Variants Using Evidence from Literature and Genomes
01:50 pm — 02:10 pm (KSA Standard Time)
The Need for Structured Background Knowledge in AI-Based Interpretation of Genomic Variants
02:10 pm — 02:30 pm (KSA Standard Time)Conference Agenda
Clinical, Biochemical and Laboratory Genetics
Registration
07:30 am — 08:30 am (KSA Standard Time)
Welcome Speech and Opening Ceremony
08:30 am — 09:00 am (KSA Standard Time)
Translation of Genomic Medicine Into Clinical Practice
09:00 am — 09:30 am (KSA Standard Time)
Disease Burden and Unmet Medical Need in ASMD
09:30 am — 10:00 am (KSA Standard Time)
Gene Therapy Medicines for The Treatment of Rare Diseases
10:00 am — 10:30 am (KSA Standard Time)
Discussion
10:30 am — 10:40 am (KSA Standard Time)
Coffee Break
10:40 am — 11:00 am (KSA Standard Time)
Update and Overview on Hypophasphatasia
11:00 am — 11:30 am (KSA Standard Time)
Unraveling The Mysteries: A Deep Dive Into Mitochondrial Disorders
11:30 am — 11:50 am (KSA Standard Time)
Update on The Homocystinuria Diagnosis and Management
11:50 am — 12:10 pm (KSA Standard Time)
Discussion
12:10 pm — 12:20 pm (KSA Standard Time)
Lunch Break
12:20 pm — 01:30 pm (KSA Standard Time)
SMA Burden, in KSA (Updates on Current Management and Care)
01:30 pm — 02:00 pm (KSA Standard Time)
Neurometabolic Cases
02:00 pm — 02:30 pm (KSA Standard Time)
The Outcome of Domino Liver Transplant: A Focus on Domino Recipients
02:30 pm — 03:00 pm (KSA Standard Time)
Coffee Break
03:00 pm — 03:30 pm (KSA Standard Time)
Premarital Genetic Screening: Current Status, Challenges and Future
03:30 pm — 05:00 pm (KSA Standard Time)
Gala Dinner
06:00 pm — 08:00 pm (KSA Standard Time)
Closure of The First Day
08:00 pm — 08:05 pm (KSA Standard Time)Clinical, Biochemical and Laboratory Genetics
Transitioning the CLN2 Enzyme Replacement Therapy From A Clinical Trial To The National Health Service in The UK
09:00 am — 09:30 am (KSA Standard Time)
Epidermolysis Bullosa: Unfolding the future and changes in practice
09:30 am — 10:00 am (KSA Standard Time)
A Gene Therapy Medicine for The Treatment of Homozygous Familial Hypercholesterolaemia
10:00 am — 10:30 am (KSA Standard Time)
Discussion
10:30 am — 10:40 am (KSA Standard Time)
Coffee Break
10:40 am — 11:00 am (KSA Standard Time)
Optimal Management of MPS Patients (MPS IVa -VI)
11:00 am — 11:30 am (KSA Standard Time)
Discussion
11:30 am — 11:40 am (KSA Standard Time)
Lunch Break
11:40 am — 01:00 pm (KSA Standard Time)
Development of A Personalised RNA Based Therapy for A Patient With Deep Intronic Mutation in NPC1”
01:00 pm — 01:30 pm (KSA Standard Time)
Changing The Horizon for Mucopolysaccharidosis Type II Patients
01:30 pm — 02:00 pm (KSA Standard Time)
Rare Diseases and Precision Medicine: The Successive Paradigm
02:00 pm — 02:30 pm (KSA Standard Time)
Limitation of Gene Therapy
02:30 pm — 02:50 pm (KSA Standard Time)
Discussion
02:50 pm — 03:00 pm (KSA Standard Time)
Coffee Break
03:00 pm — 03:20 pm (KSA Standard Time)
Role and Value of Health Economics in The Evaluation of Gene Therapy
03:20 pm — 03:40 pm (KSA Standard Time)
Management of VLCAD Deficiency –Local Experience
03:40 pm — 04:00 pm (KSA Standard Time)
Discussion
04:00 pm — 04:10 pm (KSA Standard Time)
Case Presentations
04:10 pm — 05:00 pm (KSA Standard Time)
Closure of The Second Day
05:00 pm — 05:05 pm (KSA Standard Time)Clinical, Biochemical and Laboratory Genetics
Moderators:
Dr. Walaa AlShuaibi Dr. Maha Alharbi
Unraveling The Mysteries: A Deep Dive Into Mitochondrial Disorders
08:30 am — 09:00 am (KSA Standard Time)
Update on The Metachromatic Leukodystrophy
09:00 am — 09:30 am (KSA Standard Time)
Cerebrotendinous Xanthomatosis (CTX): The Real World Experience
09:30 am — 10:00 am (KSA Standard Time)
eSPOT-On: The Discovery of A Novel Nuclease for Human Genome Editing
10:00 am — 10:30 am (KSA Standard Time)
Discussion
10:30 am — 10:40 am (KSA Standard Time)
Coffee break
10:40 am — 11:00 am (KSA Standard Time)Moderators:
Dr. May Almalki Dr. Hana Alharbi
Whole Genome Sequencing ( WGS ) to Diagnose Rare & Metabolic Genetic Diseases
11:00 am — 11:30 am (KSA Standard Time)
Advances in Genetics and Genomics in Saudi Arabia
11:30 am — 11:55 am (KSA Standard Time)
CGH Microarray: Challenging Case Scenarios
11:55 am — 12:20 pm (KSA Standard Time)
Discussion
12:20 pm — 12:30 pm (KSA Standard Time)
Lunch Break
12:30 pm — 01:30 pm (KSA Standard Time)Moderators:
Dr. Norah Alsaleh Dr. Khadijah Bakur
Best Case Abstract Presentation and Award
01:30 pm — 01:50 pm (KSA Standard Time)
STARVar: Symptom-Based Tool for Automatic Ranking of Variants Using Evidence from Literature and Genomes
01:50 pm — 02:10 pm (KSA Standard Time)
The Need for Structured Background Knowledge in AI-Based Interpretation of Genomic Variants
02:10 pm — 02:30 pm (KSA Standard Time)Moderators:
Dr. Saleh Alghamdi
Where to Go? WES vs WGS vs Gene Panels
02:30 pm — 03:30 pm (KSA Standard Time)
Closure of The Symposium
03:30 pm — 04:00 pm (KSA Standard Time)